Journal of the Formosan Medical Association
Volume 105, Issue 2 , Pages 177-181, 2006

Seventeen Alpha-hydroxylase Deficiency

  • Siew-Lee Wong

      Affiliations

    • Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, R.O.C.
    • Department of Pediatrics, Chia-Yi Christian Hospital, Chia-Yi, Taiwan, R.O.C.
    • ,
  • San-Ging Shu

      Affiliations

    • Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, R.O.C.
    • Chung Shan Medical University, Taichung, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr. San-Ging Shu, Department of Pediatrics, Taichung Veterans General Hospital, 160, Chung Kang Road, Section 3, Taichung, Taiwan, R.O.C.
    • ,
  • Chi-Ren Tsai

      Affiliations

    • Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, R.O.C.

Received 19 August 2004; received in revised form 19 October 2004; accepted 10 May 2005.

Article Outline

Seventeen a-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroid result in mineralocorticoid excess, hypokalemic hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. The disease is inherited in an autosomal recessive pattern, and is caused by mutations in the gene encoding cytochrome P450c17 (CYP17), which is the single polypeptide that mediates both 17α-hydroxylase and 17,20-lyase activities. We report the case of a 15-year-old patient with 17OHD who had a female phenotype but male karyotype (46,XY). The diagnosis was made based on classical clinical features, biochemical data and molecular genetic study. Two mutations were identified by polymerase chain reaction amplification and sequencing, including a S106P point mutation in exon 2 and a 9-bp (GACTCTTTC) deletion from nucleotide position 1519 in exon 8 of CYP17. The first of these mutations was found in the father and the second in the mother, and both have been previously reported in Asia. The patient's hypertension and hypokalemia resolved after glucocorticoid replacement and treatment with potassium-sparing diuretics. Sex hormone replacement was prescribed for induction of sexual development and reduction of the final height. Prophylactic gonadectomy was scheduled. In summary, 17OHD should be suspected in patients with hypokalemic hypertension and lack of secondary sexual development so that appropriate therapy can be implemented.

Key Words:  17α-hydroxylase deficiency , congenital adrenal hyperplasia , hypertension , hypokalemia

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PII: S0929-6646(09)60342-9

doi:10.1016/S0929-6646(09)60342-9

Journal of the Formosan Medical Association
Volume 105, Issue 2 , Pages 177-181, 2006

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